Canonical Allele Identifier: CA364399125
Gene: MMUT HGNC NCBI

Linked Data

ClinVar Variation Id: 2713054
ClinVar RCV Id: RCV003548252
gnomAD v4: 6-49451690-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49451690T>C , CM000668.2:g.49451690T>C GRCh38
NC_000006.11:g.49419403T>C , CM000668.1:g.49419403T>C GRCh37
NC_000006.10:g.49527362T>C NCBI36
NG_007100.1:g.16450A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000274813.4:c.1108A>G MANE Select ENSP00000274813.3:p.Thr370Ala
ENST00000274813.3:c.1108A>G ENSP00000274813.3:p.Thr370Ala
NM_000255.3:c.1108A>G NP_000246.2:p.Thr370Ala
XM_005249143.2:c.1108A>G XP_005249200.1:p.Thr370Ala
XM_005249143.3:c.1108A>G XP_005249200.1:p.Thr370Ala
NM_000255.4:c.1108A>G MANE Select NP_000246.2:p.Thr370Ala